ALLMedicine™ Adult Syndrome Center
Research & Reviews 6 results
https://doi.org/10.1016/j.jsmc.2021.02.006
Sleep Medicine Clinics; Silvestri R, DelRosso LM
May 15th, 2021 - Early-onset restless legs syndrome has a relatively high prevalence in pediatrics, is highly familial, and is often preceded by a diagnosis of periodic limb movement disorder or childhood insomnia. Diagnostic criteria are derived but not equal to ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598809
Medicine Otsuki Y, Ueda K et. al.
Nov 1st, 2020 - Ectrodactyly ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are caused by a TP63 gene disorder and have similar features. In the present article, a R319H m...
https://doi.org/10.1002/jgm.3122
The Journal of Gene Medicine; Jin JY, Zeng L et. al.
Aug 20th, 2019 - Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syn...
https://rarediseases.info.nih.gov/diseases/384/adult-syndrome
Sep 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 978 Definition A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia,...
https://doi.org/10.1111/pde.12938
Pediatric Dermatology; Whittington A, Stein S et. al.
Jul 30th, 2016 - Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many...
